ClinVar Miner

Submissions for variant NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) (rs137853270)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202583 SCV001373699 pathogenic not provided 2019-09-10 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 555 of the PHEX protein (p.Leu555Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with hypophosphatemia in a family (PMID: 9768646). ClinVar contains an entry for this variant (Variation ID: 10819). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011566 SCV000031798 pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets 1998-10-01 no assertion criteria provided literature only

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